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Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population

BMC cancer, 2018-04, Vol.18 (1), p.452-452, Article 452

2018

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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias

Genes, 2022-07, Vol.13 (8), p.1339

2022

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Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations

Genes, 2021-07, Vol.12 (7), p.1078

2021

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Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review

Frontiers in neurology, 2022-01, Vol.12, p.758899-758899

2022

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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene

Genes, 2022-04, Vol.13 (5), p.725

2022

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The C/A polymorphism in intron 11 of the XPC gene plays a crucial role in the modulation of an individual’s susceptibility to sporadic colorectal cancer

Molecular biology reports, 2012-01, Vol.39 (1), p.527-534

2012

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Presentation of clinical features of Silver-Russel like syndrome caused by 9,9 Mbp deletion 8q11.21-q12.1: a first Polish case

Polskie archiwum medycyny wewne̦trznej, 2022-01

2022

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Cancer stem cells: the theory and perspectives in cancer therapy

Journal of applied genetics, 2008-01, Vol.49 (2), p.193-199

2008

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The role of genetic counselling in oncology

Nowotwory, 2022-05, Vol.72 (3), p.207-210

2022

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Presentation of clinical features of Silver‑Russel-like syndrome caused by 9.9 Mbp deletion 8q11.21-q12.1: the first Polish case

Polskie archiwum medycyny wewne̦trznej, 2022-04, Vol.132 (4)

2022

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Lethal and life-limiting skeletal dysplasias: Selected prenatal issues

Advances in clinical and experimental medicine : official organ Wroclaw Medical University, 2021-06, Vol.30 (6), p.641-647

2021

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Prenatal diagnosis--principles of diagnostic procedures and genetic counseling

Folia histochemica et cytobiologica, 2007, Vol.45 Suppl 1, p.S11-S16

2007

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In-silico analysis of Thr767Ile pathogenic variant in the MSH6 gene in family with endometrial cancer

European journal of obstetrics & gynecology and reproductive biology, 2019-07, Vol.238, p.54-57

2019

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PALB2 mutations and prostate cancer risk and survival

British journal of cancer, 2021-08, Vol.125 (4), p.569-575

2021

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Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20

Fetal and pediatric pathology, 2019-05, Vol.38 (3), p.245-256

2019

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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in IDYNC2H1/I Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias

Genes, 2022-07, Vol.13 (8)

2022

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Cyclin D1 and MLH1 Levels in Laryngeal Cancer are Linked to Chromosomal Imbalance

Anticancer research, 2006-11, Vol.26 (6B), p.4597-4601

2006

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Non-invasive fetal trisomy (NIFTY) test in prenatal diagnosis

Ginekologia polska, 2014-04, Vol.85 (4), p.300-303

2014

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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked ILAS1L/I Gene

Genes, 2022-04, Vol.13 (5)

2022

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Coexistent chronic myelogenous leukemia with squamous cell carcinoma of the larynx associated with NOD2/CARD15 mutation in a young adult

Ear, nose, & throat journal, 2016-06, Vol.95 (6), p.E1-E4

2016

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Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) — Further extension of the mutational spectrum

Gene, 2014-04, Vol.539 (1), p.157-161

2014

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Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema–distichiasis syndrome

Gene, 2012-04, Vol.498 (1), p.96-99

2012

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Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias

Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations

Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene

The C/A polymorphism in intron 11 of the XPC gene plays a crucial role in the modulation of an individual’s susceptibility to sporadic colorectal cancer

Presentation of clinical features of Silver-Russel like syndrome caused by 9,9 Mbp deletion 8q11.21-q12.1: a first Polish case

Cancer stem cells: the theory and perspectives in cancer therapy

The role of genetic counselling in oncology

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6 , KLF13 and UBR3 Genes to Novel Disease Phenotype

Presentation of clinical features of Silver‑Russel-like syndrome caused by 9.9 Mbp deletion 8q11.21-q12.1: the first Polish case

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues

Prenatal diagnosis--principles of diagnostic procedures and genetic counseling

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

In-silico analysis of Thr767Ile pathogenic variant in the MSH6 gene in family with endometrial cancer

PALB2 mutations and prostate cancer risk and survival

Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in IDYNC2H1/I Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias

Cyclin D1 and MLH1 Levels in Laryngeal Cancer are Linked to Chromosomal Imbalance

Non-invasive fetal trisomy (NIFTY) test in prenatal diagnosis

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked ILAS1L/I Gene

Mutations spectrum in hereditary disorders predisposing to occurrence of intestine polyposis in Poland

Coexistent chronic myelogenous leukemia with squamous cell carcinoma of the larynx associated with NOD2/CARD15 mutation in a young adult

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) — Further extension of the mutational spectrum

Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema–distichiasis syndrome

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